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Cited by 39Genetics and Neurodevelopmental DisordersPharmacological Effects and Toxicity StudiesChild Nutrition and Feeding Issues

Bone mass in Rett syndrome: association with clinical parameters and MECP2 mutations

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Shapiro, Jay R., Bibat, Genila, Hiremath, Girish, Blue, Mary E., Hundalini, Shilpa, Yablonski, Theodore, Kantipuly, Aditi, Rohde, Charles +2 more·2010·Pediatric Research
DOI 10.1203/pdr.0b013e3181f2edd2PMC PMC3074246
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Abstract

Rett syndrome (RTT) is an X-linked neurodevelopmental disorder caused by mutations in the MECP2 gene. In 49 female RTT children, aged 1.9-17 y, bone mass was assessed and correlated with clinical parameters and mutations involving the MECP2 gene. We also studied five adult females, aged 20-33 y, and one male child, aged 6 y. Lumbar spine bone mineral content (BMC) and bone mineral density (BMD) were correlated with weight, height, BMI, clinical severity, degree of scoliosis, use of anticonvulsants, and ambulatory status. L1-L4 BMD and BMC showed that 48.9% of them had BMD values >2 SD below age-related norms. BMD values were in the osteoporotic range in the five adult females with RTT. Eleven percent of the children and adults with RTT experienced fractures. Low bone mass was correlated with marginal significance to clinical severity and ambulation but not to scoliosis or anticonvulsant use. Lowest bone mass occurred in patients with T158M or R270X mutations but without statistical significance. Studies in a murine model of RTT confirmed low bone mass as an inherent component of this syndrome. MECP2 mutations and clinical parameters impact bone mass in RTT, but an association with a specific mutation was not demonstrable.

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  • Some RTT patients have bone abnormalities, severe gastrointestinal problems and biliary tract disorders.

    “Interestingly, some RTT patients have bone abnormalities, severe gastrointestinal problems and biliary tract disorders [174–176].”

    From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [174]

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Cited by

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Authors
Shapiro, J. R., Bibat, G., Hiremath, G., Blue, M. E., Hundalini, S., Yablonski, T., Kantipuly, A., Rohde, C., Johnston, M., & Naidu, S.
Affiliations
  • Johns Hopkins University (US)
  • Kennedy Krieger Institute (US)
Corresponding author
Naidu, SakkuBai
ORCID
Venue
Pediatric Research
Publisher
Springer Science and Business Media LLC
Published
2010-07
Volume
68
Issue
5
Pages
1
ISSN
0031-3998 (ISSN-L)
DOI
10.1203/pdr.0b013e3181f2edd2
PMC
PMC3074246
OpenAlex
W2051474944
Cited by
39
References
1
Citations by year
2025: 3 · 2024: 3 · 2023: 2 · 2022: 1 · 2021: 4 · 2020: 3 · 2019: 2 · 2018: 4 · 2017: 3 · 2016: 3 · 2015: 3 · 2014: 4 · 2013: 2 · 2012: 1
FWCI
0.72
Type
journal article
Language
en
Open access
Locations
  • Pediatric Research (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion)
Funders
  • Institute for Clinical and Translational Research, University of Wisconsin, Madison
  • U.S. Public Health Service (P01-24448)
  • National Center for Research Resources (UL1RR025005)
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (P01HD024448)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Pharmacological Effects and Toxicity Studies
  • Health Sciences › Medicine › Psychiatry and Mental health › Child Nutrition and Feeding Issues
Keywords
Rett syndrome, MECP2 mutations, bone mineral density, bone mineral content, osteopenia, osteoporosis, fracture, scoliosis, clinical severity, ambulatory status, anticonvulsant use, X-linked neurodevelopmental disorder, lumbar spine
MeSH terms
Adolescent, Adult, Animals, Child, Child, Preschool, Female, Humans, Infant, Male, Mutation, Rett Syndrome, Bone Density, Mice, Knockout, Mice, Methyl-CpG-Binding Protein 2, Young Adult

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